NEUROFIBROMATOSIS TYPES I & II

Neurofibromatosis type 1 - is a condition characterized by

changes in skin coloring (pigmentation) and the growth of
tumors along nerves in the skin, brain, and other parts of
the body. The signs and symptoms of this condition vary
widely among affected people.
Beginning in early childhood, almost all people with
neurofibromatosis type 1 have multiple caf-au-lait spots,
which are flat patches on the skin that are darker than
the surrounding area. These spots increase in size and
number as the individual grows older. Freckles in the
underarms and groin typically develop later in childhood.
The NF1 gene provides instructions for making a protein
called neurofibromin. This protein is produced in many
cells, including nerve cells and specialized cells
surrounding nerves (oligodendrocytes and Schwann
cells).
Neurofibromatosis type 2 - is a disorder characterized by
the growth of noncancerous tumors in the nervous
system. The most common tumors associated with
neurofibromatosis type 2 are called vestibular
schwannomas or acoustic neuromas. These growths
develop along the nerve that carries information from the
inner ear to the brain (the auditory nerve). Tumors that
occur on other nerves are also commonly found with this
condition.
The signs and symptoms of neurofibromatosis type 2
usually appear during adolescence or in a person's early
twenties, although they can begin at any age. The most
frequent early symptoms of vestibular schwannomas are
hearing loss, ringing in the ears (tinnitus), and problems

with balance. In most cases, these tumors occur in both

ears by age 30. If tumors develop elsewhere in the
nervous system, signs and symptoms vary according to
their location. Complications of tumor growth can include
changes in vision, numbness or weakness in the arms or
legs, and fluid buildup in the brain. Some people with
neurofibromatosis type 2 also develop clouding of the
lens (cataracts) in one or both eyes, often beginning in
childhood.
Mutations in the NF2 gene cause neurofibromatosis type
2. The NF2 gene provides instructions for making a
protein called merlin (also known as schwannomin). This
protein is produced in the nervous system, particularly in
Schwann cells, which surround and insulate nerve cells
(neurons) in the brain and spinal cord.
GALACTOSEMIA TYPES I, II, & III
Galactosemia is a disorder that affects how the body
processes a simple sugar called galactose. A small
amount of galactose is present in many foods. It is
primarily part of a larger sugar called lactose, which is
found in all dairy products and many baby formulas. The
signs and symptoms of galactosemia result from an
inability to use galactose to produce energy.
Galactosemia type I (also called Classic galactosemia) - is
the most common and most severe form of the condition.
If infants with classic galactosemia are not treated
promptly with a low-galactose diet, life-threatening
complications appear within a few days after birth.
Affected infants typically develop feeding difficulties, a
lack of energy (lethargy), a failure to gain weight and
grow as expected (failure to thrive), yellowing of the skin
and whites of the eyes (jaundice), liver damage, and

abnormal bleeding. Other serious complications of this

condition can include overwhelming bacterial infections
(sepsis) and shock. Affected children are also at increased
risk of delayed development, clouding of the lens of the
eye (cataract), speech difficulties, and intellectual
disability. Females with classic galactosemia may develop
reproductive problems caused by an early loss of function
of the ovaries (premature ovarian insufficiency).
Galactosemia type II (also called galactokinase
deficiency) and type III (also called galactose epimerase
deficiency) - cause different patterns of signs and
symptoms. Galactosemia type II causes fewer medical
problems than the classic type. Affected infants develop
cataracts but otherwise experience few long-term
complications. The signs and symptoms of galactosemia
type III vary from mild to severe and can include
cataracts, delayed growth and development, intellectual
disability, liver disease, and kidney problems.
XERMODERMA PIGMENTOSUM
Xeroderma pigmentosum, which is commonly known as
XP, is an inherited condition characterized by an extreme
sensitivity to ultraviolet (UV) rays from sunlight. This
condition mostly affects the eyes and areas of skin
exposed to the sun. Some affected individuals also have
problems involving the nervous system.
The signs of xeroderma pigmentosum usually appear in
infancy or early childhood. Many affected children
develop a severe sunburn after spending just a few
minutes in the sun. The sunburn causes redness and
blistering that can last for weeks. Other affected children
do not get sunburned with minimal sun exposure, but
instead tan normally. By age 2, almost all children

withxeroderma pigmentosum develop freckling of the skin

in sun-exposed areas (such as the face, arms, and lips);
this type of freckling rarely occurs in young children
without the disorder. In affected individuals, exposure to
sunlight often causes dry skin (xeroderma) and changes
in skin coloring (pigmentation). This combination of
features gives the condition its name, xeroderma
pigmentosum.
Xeroderma pigmentosum is caused by mutations in genes
that are involved in repairing damaged DNA. DNA can be
damaged by UV rays from the sun and by toxic chemicals
such as those found in cigarette smoke. Normal cells are
usually able to fix DNA damagebefore it causes problems.
However, in people with xeroderma pigmentosum, DNA
damage is not repaired normally. As more abnormalities
form in DNA, cells malfunction and eventually become
cancerous or die.